Glycogenosis storage type�I diseases and evolutive adenomatosis: an indication for liver transplantation

Abstract

We report on two cases of type I glycogen storage disease (GSD) complicated by malignant tumors. A 23-year-old man had GSD Ia with adenomatosis. He underwent transplantation for rapidly growing and radiologically changing adenomata. At histological examination, one adenoma had become a hepatocellular carcinoma. A 22-year-old, HBV-infected woman had GSD type Ib with adenomatosis. At follow-up, several tumors showed changing morphological characteristics. Pre-transplant laparotomy confirmed the presence of a metastatic cholangiocarcinoma. Liver transplantation should be considered in GSD type I patients with adenomatosis, especially when tumor characteristics change. Regular detailed Doppler ultrasound and magnetic nuclear resonance screening during childhood and adolescence are, therefore, mandatory in order for the timing of transplantation to be optimized.

Liver transplantation for adenomatosis: European experience

“…Therefore, liver transplantations (LTs) have been reported in the literature. (11)(12)(13)(14)(15)(16)(17) Nevertheless, the management of LA remains controversial despite some progress in the prediction of the potential risk of complications (which is likely related to the size and biomolecular subtypes of the adenomas), and LA management ranges from simple follow-up to partial or total liver resection. (18)(19)(20)(21) This report describes a large retrospective European cohort of LT patients treated for adenomatosis and examines the main factors leading to transplantation and the transplantation results, with the goal of identifying the optimal role for LT in LA.…”

“…1 HCC Gordon-Burroughs et al (35) (2014) 1 HCC Fernandez-Vega et al (36) (2014) 1 No Patients with GSD IA Matern et al (14) (1999) 14 No Labrune (15) (2002) 1 HCC Lerut et al (13) (2003) 1 HCC Franco et al (37) (2005) 1 HCC Arikan et al (38) (2006) 13 No Davis and Weinstein (39) (2008) 4 No Reddy et al (16) (2009) 1 HCC Manzia et al (40) (2011) 2 HCC…”

Glycogen storage disease types I and II: Treatment updates

“…All but one patient had previously documented hepatic adenomas, as seen in the majority of adult GSD Ia patients (Chen 2001). HCC has been described previously at the time of liver transplantation in GSD Ia (Lerut et al 2003). Ominously, alpha-fetoprotein (AFP) was only mildly elevated in 2 of 8 patients at the time of diagnosis of HCC (Franco et al 2005a), which confirms the need for additional biomarkers to predict individuals with GSD I at risk for HCC.…”

Abdominal Imaging Findings of a Patient with Hepatocellular Carcinoma Associated with Glycogen Storage Disease Type 1a

“…However, the tumor was revealed to have a complete defect in the late phase of CEUS, which is not a typical finding of FNH but is of HCC. Detailed descriptions of such findings have not been reported in the literature, but a case in a report from 2003 in Table 3 may have had similar findings (20).…”